Related gene-specific medical variations for Gene (Select 546) - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064828	NM_000489.6(ATRX):c.711T>G (p.Asn237Lys)	ATRX (N199K +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 3064125	NM_000489.6(ATRX):c.4981C>T (p.Arg1661Cys)	ATRX (R1623C +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely pathogenic
Select item 2688656	NM_000489.6(ATRX):c.2258A>G (p.Asp753Gly)	ATRX (D715G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663846	NM_000489.6(ATRX):c.6793G>A (p.Glu2265Lys)	ATRX (E2227K +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely pathogenic
Select item 2442228	NM_000489.6(ATRX):c.758T>C (p.Leu253Ser)	ATRX (L215S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +1 more	GLikely pathogenic
Select item 2439420	NM_000489.6(ATRX):c.3046A>G (p.Thr1016Ala)	ATRX (T1016A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439419	NM_000489.6(ATRX):c.5742T>G (p.Asp1914Glu)	ATRX (D1876E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439418	NM_000489.6(ATRX):c.7067C>T (p.Ala2356Val)	ATRX (A2318V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439417	NM_000489.6(ATRX):c.4161A>C (p.Ser1387=)	ATRX	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2439416	NM_000489.6(ATRX):c.4348G>C (p.Glu1450Gln)	ATRX (E1412Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439415	NM_000489.6(ATRX):c.5326T>G (p.Phe1776Val)	ATRX (F1738V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439414	NM_000489.6(ATRX):c.773A>G (p.Asp258Gly)	ATRX (D220G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439413	NM_000489.6(ATRX):c.6511A>G (p.Met2171Val)	ATRX (M2133V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439412	NM_000489.6(ATRX):c.2571A>C (p.Lys857Asn)	ATRX (K819N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439411	NM_000489.6(ATRX):c.1309G>A (p.Ala437Thr)	ATRX (A399T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439410	NM_000489.6(ATRX):c.1825C>T (p.Pro609Ser)	ATRX (P571S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439408	NM_000489.6(ATRX):c.17T>C (p.Met6Thr)	ATRX, LOC130068458 (M6T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439407	NM_000489.6(ATRX):c.3279G>T (p.Arg1093Ser)	ATRX (R1055S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436330	NM_000489.6(ATRX):c.1330C>T (p.Arg444Ter)	ATRX (R406* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2421152	NM_000489.6(ATRX):c.5C>G (p.Thr2Ser)	ATRX, LOC130068458 (T2S)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2031710	NM_000489.6(ATRX):c.6C>G (p.Thr2=)	ATRX, LOC130068458	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1992338	NM_000489.6(ATRX):c.6127T>C (p.Ser2043Pro)	ATRX (S2005P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GLikely pathogenic
Select item 1992331	NM_000489.6(ATRX):c.7117G>T (p.Ala2373Ser)	ATRX (A2335S +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 1801469	NM_000489.6(ATRX):c.4557+897_4557+898insTGTTTTTTTTTTTTTTTTTGTAGTTTTTTTTTTTTTTTTGTGTG	ATRX	Microsatellite (intron variant)	Schizophrenia	GUncertain significance
Select item 1801437	NM_000489.6(ATRX):c.5135-5541_5135-5497del	ATRX	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1701648	NM_000489.6(ATRX):c.4103G>T (p.Gly1368Val)	ATRX (G1330V +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GUncertain significance
Select item 1696484	NM_000489.6(ATRX):c.7066G>A (p.Ala2356Thr)	ATRX (A2318T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +1 more	GUncertain significance
Select item 1679750	NM_000489.6(ATRX):c.1808C>T (p.Ala603Val)	ATRX (A565V +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GUncertain significance
Select item 1676419	NM_000489.6(ATRX):c.4215-4T>A	ATRX	Single nucleotide variant	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1088818	NM_000489.6(ATRX):c.15C>G (p.Pro5=)	ATRX, LOC130068458	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1004977	NM_000489.6(ATRX):c.1A>G (p.Met1Val)	ATRX, LOC130068458 (M1V)	Single nucleotide variant (missense variant +1 more)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 991726	NM_000489.6(ATRX):c.1733C>G (p.Thr578Ser)	ATRX (T540S +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 991724	NM_000489.6(ATRX):c.1885C>G (p.Leu629Val)	ATRX (L591V +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 991723	NM_000489.6(ATRX):c.1955A>T (p.Asp652Val)	ATRX (D614V +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 991720	NM_000489.6(ATRX):c.7200+10C>G	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 977449	NM_000489.6(ATRX):c.3924A>T (p.Glu1308Asp)	ATRX (E1270D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 975655	NM_000489.6(ATRX):c.5080A>G (p.Asn1694Asp)	ATRX (N1656D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GLikely pathogenic
Select item 930817	NM_000489.6(ATRX):c.4199A>T (p.Gln1400Leu)	ATRX (Q1400L +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 930226	NM_000489.6(ATRX):c.3813T>G (p.Ile1271Met)	ATRX (I1233M +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 856527	NM_000489.6(ATRX):c.18G>A (p.Met6Ile)	ATRX, LOC130068458 (M6I)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 813537	NM_000489.6(ATRX):c.5977A>T (p.Asn1993Tyr)	ATRX (N1993Y +1 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 807774	NM_000489.6(ATRX):c.3931C>T (p.Pro1311Ser)	ATRX (P1273S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 647163	NM_000489.6(ATRX):c.16A>G (p.Met6Val)	ATRX, LOC130068458 (M6V)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 624431	NM_000489.6(ATRX):c.5553A>C (p.Leu1851Phe)	ATRX (L1851F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618544	NM_000489.6(ATRX):c.6271A>G (p.Thr2091Ala)	ATRX (T2091A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560706	NM_000489.6(ATRX):c.7192C>T (p.Gln2398Ter)	ATRX (Q2398* +1 more)	Single nucleotide variant (nonsense)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely pathogenic
Select item 533643	NM_000489.6(ATRX):c.12G>A (p.Glu4=)	ATRX, LOC130068458	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 445399	NM_000489.6(ATRX):c.3287T>G (p.Leu1096Trp)	ATRX (L1096W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 444816	NM_000489.6(ATRX):c.134A>T (p.Asp45Val)	ATRX (D45V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 166715	NM_000489.6(ATRX):c.-14G>A	ATRX, LOC130068458	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 156326	NM_000489.6(ATRX):c.6718C>T (p.Leu2240Phe)	ATRX (L2240F +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	Gnot provided
Select item 133647	NM_000489.6(ATRX):c.5576A>G (p.Asn1859Ser)	ATRX (N1859S +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133646	NM_000489.6(ATRX):c.5167delinsGAAGGC (p.Ile1723fs)	ATRX (I1685fs +1 more)	Indel (frameshift variant)	not specified	Gnot provided
Select item 91912	NM_000489.6(ATRX):c.6631G>T (p.Glu2211Ter)	ATRX (E2211* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 57925	GRCh38/hg38 Xq21.1(chrX:77490616-77524711)x1	ATRX	Copy number loss	See cases	GPathogenic
Select item 11740	NM_000489.6(ATRX):c.20+1G>A	ATRX, LOC130068458	Single nucleotide variant (splice donor variant)	Acquired hemoglobin H disease	GPathogenic

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Links from Gene

Items: 56